esv3584850
- Organism: Homo sapiens
- Study:estd213 (Mokhtar et al. 2014)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:77,597
- Publication(s):Mokhtar et al. 2014
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 2642 SVs from 96 studies. See in: genome view
Overlapping variant regions from other studies: 2642 SVs from 96 studies. See in: genome view
Overlapping variant regions from other studies: 1285 SVs from 32 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3584850 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 78,259,348 | 78,336,944 |
| esv3584850 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 78,969,065 | 79,046,661 |
| esv3584850 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 79,025,784 | 79,103,380 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv9838738 | copy number loss | OA018 | SNP array | Probe signal intensity | 25 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv9838738 | Remapped | Perfect | NC_000006.12:g.(?_ 78259348)_(7833694 4_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,259,348 | 78,336,944 |
| essv9838738 | Remapped | Perfect | NC_000006.11:g.(?_ 78969065)_(7904666 1_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,969,065 | 79,046,661 |
| essv9838738 | Submitted genomic | NC_000006.10:g.(?_ 79025784)_(7910338 0_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,025,784 | 79,103,380 |